Farberg Aaron S, Marson Justin W, Glazer Alex, Litchman Graham H, Svoboda Ryan, Winkelmann Richard R, Brownstone Nicholas, Rigel Darrell S
Section of Dermatology, Baylor Scott & White Health System, 2110 Research Row, Dallas, TX, 75235, USA.
Dermatology Science and Research Foundation, Buffalo Grove, IL, USA.
Dermatol Ther (Heidelb). 2022 Apr;12(4):807-823. doi: 10.1007/s13555-022-00709-x. Epub 2022 Mar 30.
Prognostic assessment of cutaneous melanoma relies on historical, clinicopathological, and phenotypic risk factors according to American Joint Committee on Cancer(AJCC) and National Comprehensive Cancer Network (NCCN) guidelines but may not account for a patient's individual additional genetic risk factors.
To review the available literature regarding commercially available gene expression profile (GEP) tests and their use in the management of cutaneous melanoma.
A literature search was conducted for original, English-language studies or meta-analyses published between 2010 and 2021 on commercially available GEP tests in cutaneous melanoma prognosis, clinical decision-making regarding sentinel lymph node biopsy, and real-world efficacy. After the literature review, the Skin Cancer Prevention Working Group, an expert panel of dermatologists with specialized training in melanoma and non-melanoma skin cancer diagnosis and management, utilized a modified Delphi technique to develop consensus statements regarding prognostic gene expression profile tests. Statements were only adopted with a supermajority vote of > 80%.
The initial search identified 1064 studies/meta-analyses that met the search criteria. Of these, we included 21 original articles and meta-analyses that studied the 31-GEP test (DecisionDx-Melanoma; Castle Biosciences, Inc.), five original articles that studied the 11-GEP test (Melagenix; NeraCare GmbH), and four original articles that studied the 8-GEP test with clinicopathological factors (Merlin; 8-GEP + CP; SkylineDx B.V.) in this review. Six statements received supermajority approval and were adopted by the panel.
GEP tests provide additional, reproducible information for dermatologists to consider within the larger framework of the eighth edition of the AJCC and NCCN cutaneous melanoma guidelines when counseling regarding prognosis and when considering a sentinel lymph node biopsy.
根据美国癌症联合委员会（AJCC）和美国国立综合癌症网络（NCCN）指南，皮肤黑色素瘤的预后评估依赖于病史、临床病理和表型风险因素，但可能未考虑患者个体的其他遗传风险因素。
回顾关于市售基因表达谱（GEP）检测及其在皮肤黑色素瘤管理中的应用的现有文献。
检索2010年至2021年间发表的关于市售GEP检测在皮肤黑色素瘤预后、前哨淋巴结活检的临床决策及实际疗效方面的英文原创研究或荟萃分析。文献综述后，皮肤癌预防工作组（一个由在黑色素瘤和非黑色素瘤皮肤癌诊断及管理方面接受过专门培训的皮肤科医生组成的专家小组）采用改良德尔菲技术就预后基因表达谱检测制定共识声明。声明仅在超过80%的绝大多数投票通过时才被采纳。
初步检索确定了1064项符合检索标准的研究/荟萃分析。其中，本综述纳入了21篇研究31基因表达谱检测（DecisionDx - Melanoma；Castle Biosciences公司）的原创文章和荟萃分析、5篇研究11基因表达谱检测（Melagenix；NeraCare GmbH公司）的原创文章以及4篇研究8基因表达谱检测与临床病理因素结合（Merlin；8 - GEP + CP；SkylineDx B.V.公司）的原创文章。六项声明获得绝大多数批准并被专家小组采纳。
在根据AJCC第八版和NCCN皮肤黑色素瘤指南就预后进行咨询以及考虑前哨淋巴结活检时，GEP检测为皮肤科医生在更大框架内提供了额外的、可重复的信息以供参考。
